Jacqueline Ramsay

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Sabina Benko, Judy Fantes, Jeanne Amiel et al. · Nature Genetics · 2009 · 433 citations

Sequence Motif, Comparative Genomics, Genetics +10

3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

Lionel Willatt, James J. Cox, John Barber et al. · The American Journal of Human Genetics · 2005 · 295 citations · Full text

Molecular Characterization, Gene Deletion Data, Genetic Disorder +10

CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1

Birgitta Winnepenninckx, Kim Debacker, Jacqueline Ramsay et al. · The American Journal of Human Genetics · 2007 · 129 citations · Full text

Chromatin, Genome Instability, Fragile Site Fra12a +13

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Joe Rainger, Ellen van Beusekom, Jacqueline Ramsay et al. · PLoS Genetics · 2011 · 93 citations · Full text

FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality

Judith A. Fantes, Elena Boland, Jacqueline Ramsay et al. · The American Journal of Human Genetics · 2008 · 81 citations · Full text

Biology, Phenotypic Abnormality, Cytogenetics +12